Peutz Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is a condition where people develop characteristic polyps and dark-colored spots and have an increased risk of certain types of cancer.

Causes of Peutz Jeghers Syndrome #

Peutz-Jeghers syndrome (PJS) is caused when a person has a change (mutation) in one copy of the STK11/LKB1 gene. Everyone has two copies of the STK11/LKB1 gene. The copy of the gene with the mutation can be passed on to future generations.

Symptoms of Peutz Jeghers Syndrome #

• Development of hamartomatous polyps (non-cancerous overgrowths of tissue)

• Small bowel obstruction (blockage)

• Gastrointestinal bleeding

• Anemia

• Stomach pain

• Characteristic dark-colored spots (also called muco-cutaneous pigmentation) on various parts of the body.

• Intussusception of the small bowel (a condition where the small bowel turns itself inside out). This commonly occurs early due to the small bowel trying to pass a large polyp.

Diagnosis of Peutz Jeghers Syndrome #

Genetic counseling and genetic testing should be offered to anyone that meets these criteria. Genetic testing is done through a blood sample. A diagnosis of Peutz-Jeghers syndrome (PJS) is considered in anyone with:

• Two or more Peutz-Jeghers polyps
• Any number of Peutz-Jeghers polyps with a family history of PJS
• Characteristic dark-colored spots with a family history of PJS
• Any number of Peutz-Jeghers polyps and characteristic dark-colored spots

Treatment of Peutz Jeghers Syndrome #

• Currently, there is no cure for Peutz-Jeghers syndrome (PJS).

• Patients undergo lifelong surveillance of organs to monitor for cancer and prevent secondary problems from the polyps.

• Some studies show that patients who are under close surveillance may avoid the need for emergency small intestinal surgery and do not develop cancer.

• This depends on polyps being removed before they are large enough to cause an obstruction or become a cancer.

• Polyps in the colon are easily removed during a colonoscopy.

• Polyps in the stomach and duodenum (part of the small intestine) can be biopsied and snared (removed) if necessary.

• Polyps in the small bowel further downstream can be seen on balloon or double balloon enteroscopy and possibly snared.

• If the polyps cannot be reached, and are showing symptoms of a greater issue, then they may be removed surgically.